Neuromedicine

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DOI: 10.22606/nrm.2019.21001

• Gennady Bisaga^*
  The Clinic of Nervous Diseases of S.M.Kirov Military Medical Academy, St. Petersburg, Russian Federation
• Olga Gaykova
  The Clinic of Nervous Diseases of S.M.Kirov Military Medical Academy, St. Petersburg, Russian Federation
• Ljudmila Onishchenko
  The Clinic of Nervous Diseases of S.M.Kirov Military Medical Academy, St. Petersburg, Russian Federation
• Alexey Sobolev
  The Clinic of Nervous Diseases of S.M.Kirov Military Medical Academy, St. Petersburg, Russian Federation
• Tatiana Bukina
  FSBI Research Centre of Medical Genetics of the Russian Academy of Medical Sciences St. Petersburg 1, Russian Federation
• Ekaterina Zakharova
  FSBI Research Centre of Medical Genetics of the Russian Academy of Medical Sciences St. Petersburg 1, Russian Federation
• Alexey Sokolov
  The Department of Extracorporal Detoxication of S.M.Kirov Military Medical Academy, St. Petersburg, Russian Federation
• Vera Ellinidi
  The Laboratory of Clinical Immunology of the Nikiforov Russian Center of Emergency and Radiation Medicine of the Ministry of Emergency Situations, St. Petersburg, Russian Federation
• Alexey Popov
  The Clinic of Nervous Diseases of S.M.Kirov Military Medical Academy, St. Petersburg, Russian Federation
• Igor Litvinenko
  The Clinic of Nervous Diseases of S.M.Kirov Military Medical Academy, St. Petersburg, Russian Federation

Clinical, imaging, laboratory and morphological data of a metachromatic leukodystrophy (MLD) patient were analyzed retrospectively. The clinical picture consisted of progressing pyramidal, cerebellar, brain stem, optical, mental, and bowel and bladder disturbances, and epileptic seizures. Large symmetric periventricular T2 lesions were seen on the magnetic resonance imaging brain scans. Unspecific lesions of 11C-methionine storage were found by brain positron emission tomography. Light microscopy of brain biopsy did not reveal any morphological changes specific for MLD, but some unusual pictures of myelinopathy in many myelin fibers were detected by electron microscopy. Biochemical analysis of lysosomal ferments or their activator proteins and deoxyribonucleic acid (DNA) diagnostics were conclusive for the diagnosis of MLD. Differential diagnosis was performed to identify various leukodystrophy forms and other central nervous system diseases.

Metachromatic leukodystrophy, brain biopsy, light microscopy, immunohistochemistry, electron microscopy, DNA-diagnostics.

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